In-depth Human Phenotype Ontology Curation Boosts Prioritization Performance for Netherton Syndrome
This study brings the Human Phenotype Ontology into dermatology, refining and expanding its use for Netherton syndrome. The updated terms significantly boost diagnostic performance and enhance clinical phenotyping. It highlights the promise of ontology-based tools for rare skin diseases.
Authors
- Mariëlle van Gijn (ORCID: https://orcid.org/0000-0002-1073-0539)
- Alain Hovnanian (ORCID: https://orcid.org/0000-0003-3412-7512)
- Katariina Hannula‐Jouppi (ORCID: https://orcid.org/0000-0003-3864-2853)
- Adam S. Arterbery (ORCID: https://orcid.org/0000-0002-3817-890X)
- Michel van Geel (ORCID: https://orcid.org/0000-0002-0273-8020)
- Peter N. Robinson (ORCID: https://orcid.org/0000-0002-0736-9199)
- Daniel Daniš (ORCID: https://orcid.org/0000-0003-0900-3411)
- H. Han (ORCID: https://orcid.org/0000-0002-1030-2374)
- Edwin Cuperus (ORCID: https://orcid.org/0000-0002-8120-7657)
- Christine Bodemer (ORCID: https://orcid.org/0000-0001-8772-0905)
- Cristina Has (ORCID: https://orcid.org/0000-0001-6066-507X)
- Lisa Weibel (ORCID: https://orcid.org/0000-0002-8696-8164)
- Suzanne G.M.A. Pasmans (ORCID: https://orcid.org/0000-0003-1018-4475)
Institutions
- Hôpital Necker-Enfants Malades (FR)
- University of Helsinki (FI)
- Radboud University Nijmegen (NL)
- Inserm (FR)
- Helsinki University Hospital (FI)
- University Medical Center Freiburg (DE)
- Erasmus MC (NL)
- Radboud University Medical Center (NL)
- Assistance Publique – Hôpitaux de Paris (FR)
- Jackson Laboratory (US)
- University Children's Hospital Zurich (CH)
- Berlin Institute of Health at Charité - Universitätsmedizin Berlin (DE)
- Erasmus MC - Sophia Children’s Hospital (NL)
- Amsterdam University Medical Centers (NL)
- Institut des Maladies Génétiques Imagine (FR)
- University of Amsterdam (NL)
Publication Details
- Journal
- British Journal of Dermatology
- Published
- 2026-06-16
- DOI
- https://doi.org/10.1093/bjd/ljag249
- Primary Topic
- Skin and Cellular Biology Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00